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Research

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

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Early-life immune development is a critical factor in predicting the risk of childhood respiratory infections, asthma, and poor vaccine responses. Identifying immune endotypes that predispose children to these conditions could lead to the development of predictive biomarkers and early interventions, potentially improving long-term health outcomes. 

Research

Jane Pillow BMedSci (Dist) MBBS, PhD (Dist) FRACP Research Theme Head, Early Environment; Team Lead, Chronobiology jane.pillow@thekids.org.au

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Understand how bronchopulmonary dysplasia (BPD) and antenatal and postnatal factors influence diaphragmatic functional effectiveness in very preterm infants.

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Sex-specific developmental differences in brain structure have been documented in older children and adolescents, with females generally showing smaller overall brain volumes and earlier peak ages than males. However, sex differences in gray matter structural development in early childhood are less studied. We characterized sex-specific trajectories of gray matter volume development in children aged 2–8 years.  

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Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach. 

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Providing a sustainably resourced medical workforce to meet the healthcare needs of a population is a significant challenge. Drivers of medical workforce issues include an ageing population, increasing chronic disease, skill shortages and workforce maldistribution. In this paper, we consider the imbalance between generalism and specialism in Australia, arguing that generalist positions may better address the current healthcare gaps.

Research

The pivotal phase 3 EPITOPE trial, a 12-month, double-blind, placebo-controlled study of epicutaneous immunotherapy with the VIASKIN patch containing 250 μg of peanut protein (VP250), previously reported significant treatment response versus placebo in peanut-allergic toddlers aged 1 through 3 years.

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Gut microbiota play a critical role in long-term health by supporting metabolism, immune function, inflammation regulation, and neurological development via the gut–brain axis. Beneficial bacteria enhance gut integrity through short-chain fatty acid production, pathogen inhibition, and mucosal barrier support.

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We are working with the leadership and staff at foster care agencies and community members to provide information about cultural connection, and cultural activity and resources for Aboriginal children living in non-Aboriginal care arrangements.